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    ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 [ Homo sapiens (human) ]

    Gene ID: 55139, updated on 6-May-2024

    Summary

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    Official Symbol
    ANKZF1provided by HGNC
    Official Full Name
    ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1provided by HGNC
    Primary source
    HGNC:HGNC:25527
    See related
    Ensembl:ENSG00000163516 MIM:617541; AllianceGenome:HGNC:25527
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Vms1; ZNF744
    Summary
    Predicted to enable metal ion binding activity. Involved in cellular response to hydrogen peroxide. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lymph node (RPKM 19.0), spleen (RPKM 18.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q35
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219229806..219236679)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219714571..219721444)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220094528..220101401)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 6 (LAN blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220082897-220083764 Neighboring gene autophagy related 9A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093298-220093846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093847-220094394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220094395-220094942 Neighboring gene galactosidase beta 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220109882-220110464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17145 Neighboring gene serine/threonine kinase 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12351 Neighboring gene tubulin alpha 4a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17148 Neighboring gene tubulin alpha 4b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. High ANKZF1 expression is associated with poor overall survival and recurrence-free survival in colon cancer. Zhou X, et al. Future Oncol, 2019 Jun. PMID 31257922
    2. ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control. Yip MCJ, et al. Cell Rep, 2020 Feb 18. PMID 32075755, Free PMC Article
    3. Mechanism for recycling tRNAs on stalled ribosomes. Yip MCJ, et al. Nat Struct Mol Biol, 2019 May. PMID 31011209
    4. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease. van Haaften-Visser DY, et al. J Biol Chem, 2017 May 12. PMID 28302725, Free PMC Article
    5. The general definition of the p97/valosin-containing protein (VCP)-interacting motif (VIM) delineates a new family of p97 cofactors. Stapf C, et al. J Biol Chem, 2011 Nov 4. PMID 21896481, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of ZNF169 promotes the growth and proliferation of colorectal cancer cells via the upregulation of ANKZF1.
      Title: Overexpression of ZNF169 promotes the growth and proliferation of colorectal cancer cells via the upregulation of ANKZF1.
    2. High ANKZF1 is an independent factor of poor survival (overall survival and recurrence-free survival) in colon cancer by taking part in angiogenesis and some cancer signaling pathways.
      Title: High ANKZF1 expression is associated with poor overall survival and recurrence-free survival in colon cancer.
    3. Rendering 60S RNCs resistant to Ptrh1 but susceptible to ANKZF1.
      Title: Release of Ubiquitinated and Non-ubiquitinated Nascent Chains from Stalled Mammalian Ribosomal Complexes by ANKZF1 and Ptrh1.
    4. ANKZF1 peptidyl-tRNA hydrolases release nascent chains from stalled ribosomes
      Title: Vms1 and ANKZF1 peptidyl-tRNA hydrolases release nascent chains from stalled ribosomes.
    5. loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity, and this may play a pathogenic role in the development of infantile-onset inflammatory bowel disease
      Title: Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10415, FLJ13144

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA endonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables catalytic activity, acting on a tRNA IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to hydrogen peroxide IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein quality control for misfolded or incompletely synthesized proteins IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    tRNA endonuclease ANKZF1
    Names
    ankyrin repeat and zinc finger domain containing 1
    ankyrin repeat and zinc finger domain-containing protein 1
    zinc finger protein 744

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001042410.2 → NP_001035869.1  tRNA endonuclease ANKZF1 isoform 1

      See identical proteins and their annotated locations for NP_001035869.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC068946, AK023206, BC028334, DA899467
      Consensus CDS
      CCDS42821.1
      UniProtKB/Swiss-Prot
      Q9H8Y5, Q9NVZ4
      Related
      ENSP00000386337.3, ENST00000410034.7
      Conserved Domains (5) summary
      smart00451
      Location:69 → 103
      ZnF_U1; U1-like zinc finger
      cd00204
      Location:495 → 578
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00020
      Location:74 → 96
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13637
      Location:495 → 555
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:495 → 532
      ANK; ANK repeat [structural motif]

    2. NM_001282792.2 → NP_001269721.1  tRNA endonuclease ANKZF1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three consecutive exons in the 5' region, and initiates translation at a downstream AUG codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA482007, AC068946, AK225275, BC028334, DA226194
      Consensus CDS
      CCDS63129.1
      UniProtKB/TrEMBL
      B8ZZS4
      Related
      ENSP00000386815.1, ENST00000409849.5
      Conserved Domains (3) summary
      cd00204
      Location:285 → 368
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam13637
      Location:285 → 345
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:285 → 322
      ANK; ANK repeat [structural motif]

    3. NM_018089.3 → NP_060559.2  tRNA endonuclease ANKZF1 isoform 1

      See identical proteins and their annotated locations for NP_060559.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1)represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC068946, BC008948, BC028334, DA226194
      Consensus CDS
      CCDS42821.1
      UniProtKB/Swiss-Prot
      Q9H8Y5, Q9NVZ4
      Related
      ENSP00000321617.5, ENST00000323348.10
      Conserved Domains (5) summary
      smart00451
      Location:69 → 103
      ZnF_U1; U1-like zinc finger
      cd00204
      Location:495 → 578
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00020
      Location:74 → 96
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13637
      Location:495 → 555
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:495 → 532
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219229806..219236679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511392.4 → XP_011509694.1  tRNA endonuclease ANKZF1 isoform X1

      Conserved Domains (5) summary
      smart00451
      Location:69 → 103
      ZnF_U1; U1-like zinc finger
      cd00204
      Location:494 → 577
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00020
      Location:74 → 96
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13637
      Location:494 → 554
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:494 → 531
      ANK; ANK repeat [structural motif]

    2. XM_017004421.3 → XP_016859910.1  tRNA endonuclease ANKZF1 isoform X5

    3. XM_047444866.1 → XP_047300822.1  tRNA endonuclease ANKZF1 isoform X6

    4. XM_047444865.1 → XP_047300821.1  tRNA endonuclease ANKZF1 isoform X4

    5. XM_047444864.1 → XP_047300820.1  tRNA endonuclease ANKZF1 isoform X3

    6. XM_005246663.4 → XP_005246720.1  tRNA endonuclease ANKZF1 isoform X2

      Conserved Domains (5) summary
      smart00451
      Location:4 → 38
      ZnF_U1; U1-like zinc finger
      cd00204
      Location:430 → 513
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00020
      Location:9 → 31
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13637
      Location:430 → 490
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:430 → 467
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219714571..219721444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342737.1 → XP_054198712.1  tRNA endonuclease ANKZF1 isoform X1

    2. XM_054342741.1 → XP_054198716.1  tRNA endonuclease ANKZF1 isoform X5

    3. XM_054342742.1 → XP_054198717.1  tRNA endonuclease ANKZF1 isoform X6

    4. XM_054342740.1 → XP_054198715.1  tRNA endonuclease ANKZF1 isoform X4

    5. XM_054342739.1 → XP_054198714.1  tRNA endonuclease ANKZF1 isoform X3

    6. XM_054342738.1 → XP_054198713.1  tRNA endonuclease ANKZF1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8Y5.1 GenPept UniProtKB/Swiss-Prot:Q9H8Y5

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